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  1. Article ; Online: Gene therapies in pediatrics.

    Andoni Urtizberea, J

    Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

    2023  Volume 30, Issue 8S1, Page(s) 8S1

    MeSH term(s) Humans ; Genetic Therapy ; Pediatrics
    Language English
    Publishing date 2023-12-01
    Publishing country France
    Document type Editorial
    ZDB-ID 1181947-9
    ISSN 1769-664X ; 0929-693X
    ISSN (online) 1769-664X
    ISSN 0929-693X
    DOI 10.1016/S0929-693X(23)00220-8
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    Zs.A 3942: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: L’innovation thérapeutique à tout prix ?

    Andoni Urtizberea, J

    Medecine sciences : M/S

    2023  Volume 38 Hors série n° 1, Page(s) 5

    Title translation Therapeutic innovation at all costs?
    MeSH term(s) Humans ; Costs and Cost Analysis ; Diffusion of Innovation ; Organizational Innovation
    Language French
    Publishing date 2023-01-16
    Publishing country France
    Document type Editorial
    ZDB-ID 632733-3
    ISSN 1958-5381 ; 0767-0974
    ISSN (online) 1958-5381
    ISSN 0767-0974
    DOI 10.1051/medsci/2022174
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  3. Article ; Online: Obituary.

    Romero, Norma Beatriz / Urtizberea, J Andoni / Quijano-Roy, Susana

    Neuromuscular disorders : NMD

    2024  Volume 38, Page(s) 42–43

    Language English
    Publishing date 2024-04-01
    Publishing country England
    Document type Journal Article
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2024.03.008
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    Zs.A 3258: Show issues Location:
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  4. Article ; Online: La première glycogénose musculaire humaine à transmission autosomique dominante.

    Urtizberea, J Andoni

    Medecine sciences : M/S

    2021  Volume 36 Hors série n° 2, Page(s) 58

    Title translation Identification of the first autosomal dominant human glycogenosis.
    MeSH term(s) Glycogen Storage Disease ; Humans ; Liver
    Language French
    Publishing date 2021-01-11
    Publishing country France
    Document type Journal Article
    ZDB-ID 632733-3
    ISSN 1958-5381 ; 0767-0974
    ISSN (online) 1958-5381
    ISSN 0767-0974
    DOI 10.1051/medsci/2020237
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  5. Article ; Online: La deuxième École Balte de Neuromyologie.

    Andoni Urtizberea, J / Malfatti, Edoardo / Carlier, Pierre G

    Medecine sciences : M/S

    2023  Volume 38 Hors série n° 1, Page(s) 49–51

    Abstract: The second edition of the Baltic School of Neuromyology took place on August 26-27, 2022 in Riga (Latvia), in a somewhat peculiar atmosphere given the international situation. An opportunity for the authors to measure the accomplishments made by their ... ...

    Title translation The Second Baltic School of Neuromyology.
    Abstract The second edition of the Baltic School of Neuromyology took place on August 26-27, 2022 in Riga (Latvia), in a somewhat peculiar atmosphere given the international situation. An opportunity for the authors to measure the accomplishments made by their Baltic counterparts in the diagnosis and management of neuromuscular disorders, a successful although challenging venture, which led to the integration of three Baltic neuromuscular reference centers to the European Reference Network Euro-NMD. Beyond this form of consecration, and even though a lot remains to be achieved, notably in the field of muscle histopathology, various Baltic teams showed truly remarkable pieces of clinical research that will be useful to the whole myology community worldwide.
    MeSH term(s) Humans ; Latvia ; Neuromuscular Diseases
    Language French
    Publishing date 2023-01-16
    Publishing country France
    Document type English Abstract ; Journal Article
    ZDB-ID 632733-3
    ISSN 1958-5381 ; 0767-0974
    ISSN (online) 1958-5381
    ISSN 0767-0974
    DOI 10.1051/medsci/2022183
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  6. Article ; Online: AcadeMYO, un pari réussi.

    Urtizberea, J Andoni / Romero, Norma B

    Medecine sciences : M/S

    2021  Volume 37 Hors série n° 1, Page(s) 5

    Title translation AcadeMYO, a successful bet.
    MeSH term(s) COVID-19 ; Education, Distance ; Humans ; Mycology/education ; Program Development ; Program Evaluation
    Language French
    Publishing date 2021-12-08
    Publishing country France
    Document type Editorial
    ZDB-ID 632733-3
    ISSN 1958-5381 ; 0767-0974
    ISSN (online) 1958-5381
    ISSN 0767-0974
    DOI 10.1051/medsci/2021199
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  7. Article ; Online: L’Homme Gelé (渐冻人) et le déficit en cristalline αB.

    Urtizberea, J Andoni / Kaplan, Jean-Claude

    Medecine sciences : M/S

    2021  Volume 36 Hors série n° 2, Page(s) 38–50

    Abstract: The Confucian philosophy teaches us that the search for truth does not always follow a straight line. The clinical observation presented here illustrates this perfectly and is about a child afflicted by a rare neuromuscular disorder (in Chinese, the word ...

    Title translation The Frozen Man and the Chinese Alphabet.
    Abstract The Confucian philosophy teaches us that the search for truth does not always follow a straight line. The clinical observation presented here illustrates this perfectly and is about a child afflicted by a rare neuromuscular disorder (in Chinese, the word 'myopathy' is translated to meaning 'frozen man') in whom was suspected a deficit in αB crystallin. The authors take the opportunity to put the spotlight on China, this great country which did not wait for Alain Peyrefitte to wake up or, more precisely, to rewake. In the light of past and recent missions in the former Middle Kingdom, an update is made on the medico-scientific but also societal issues of this country on the verge of becoming, perhaps, a giant in the field of neuromuscular diseases.
    MeSH term(s) Humans ; Infant ; Male ; alpha-Crystallin B Chain/genetics ; China ; Diagnosis, Differential ; Heterozygote ; History, 21st Century ; Muscular Diseases/congenital ; Muscular Diseases/diagnosis ; Muscular Diseases/genetics ; Muscular Diseases/therapy ; Mutation ; Rare Diseases/diagnosis ; Rare Diseases/genetics ; Rare Diseases/therapy ; Respiration, Artificial ; Stiff-Person Syndrome/diagnosis ; Stiff-Person Syndrome/genetics
    Chemical Substances alpha-Crystallin B Chain ; CRYAB protein, human
    Language French
    Publishing date 2021-01-11
    Publishing country France
    Document type Historical Article ; Journal Article
    ZDB-ID 632733-3
    ISSN 1958-5381 ; 0767-0974
    ISSN (online) 1958-5381
    ISSN 0767-0974
    DOI 10.1051/medsci/2020266
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    Zs.B 2872: Show issues Location:
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  8. Article ; Online: Le syndrome de Schwartz-Jampel.

    Urtizberea, J Andoni / Severa, Gianmarco / Ropars, Juliette / Malfatti, Edoardo

    Medecine sciences : M/S

    2023  Volume 39 Hors série n° 1, Page(s) 37–46

    Abstract: The Schwartz-Jampel syndrome (SJS, OMIM #255800) is an ultra-rare genetic disease characterized by myotonic manifestations combined with bone and cartilage abnormalities. Following an autosomal recessive mode of inheritance, its prevalence is more ... ...

    Title translation The Schwartz-Jampel syndrome.
    Abstract The Schwartz-Jampel syndrome (SJS, OMIM #255800) is an ultra-rare genetic disease characterized by myotonic manifestations combined with bone and cartilage abnormalities. Following an autosomal recessive mode of inheritance, its prevalence is more significant in highly-inbred areas. The unraveling of the HSPG2 gene encoding a protein of the basal lamina enabled a better nosological delineation of the syndrome. The diagnosis is usually strongly suspected at the clinical level and then confirmed by molecular biology. To date, the treatment remains essentially symptomatic.
    MeSH term(s) Humans ; Osteochondrodysplasias/diagnosis ; Osteochondrodysplasias/genetics ; Osteochondrodysplasias/drug therapy ; Inheritance Patterns ; Mutation
    Language French
    Publishing date 2023-11-17
    Publishing country France
    Document type English Abstract ; Journal Article
    ZDB-ID 632733-3
    ISSN 1958-5381 ; 0767-0974
    ISSN (online) 1958-5381
    ISSN 0767-0974
    DOI 10.1051/medsci/2023133
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  9. Article: What is the Next Step after an Electrodiagnostic Study in Children with Polyneuropathies? Rationale for Laboratory and Other Diagnostic Tests.

    Babaee, Marzieh / Urtizberea, J Andoni / Fatehi, Farzad / Rayegani, Seyed Mansoor

    Iranian journal of child neurology

    2023  Volume 17, Issue 4, Page(s) 9–22

    Abstract: The etiology of polyneuropathies varies in the pediatric population, where hereditary or metabolic disorders are far more common than in adults. However, treatable polyneuropathies, also prevalent in these settings, are those to prioritize. Moreover, ... ...

    Abstract The etiology of polyneuropathies varies in the pediatric population, where hereditary or metabolic disorders are far more common than in adults. However, treatable polyneuropathies, also prevalent in these settings, are those to prioritize. Moreover, diagnosing subacute and chronic symptoms in children can be challenging compared to adults. Therefore, selecting the best and most relevant laboratory investigations and paraclinical studies is critical. This taskcan be relatively challenging in countries with limited resources or insurance coverage. This study describe the various types of polyneuropathies found in children and their characteristics and suggest an algorithm for using the best laboratory tests in the context of the Iranian healthcare system.
    Language English
    Publishing date 2023-10-26
    Publishing country Iran
    Document type Journal Article ; Review
    ZDB-ID 2542305-8
    ISSN 2008-0700 ; 1735-4668
    ISSN (online) 2008-0700
    ISSN 1735-4668
    DOI 10.22037/ijcn.v17i4.43124
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: 2020, une année entre parenthèses.

    Campana-Salort, Emmanuelle / Bonne, Gisèle / Allamand, Valérie / Andoni Urtizberea, J

    Medecine sciences : M/S

    2021  Volume 36 Hors série n° 2, Page(s) 5

    Title translation 2020: A year in parentheses.
    Language French
    Publishing date 2021-01-11
    Publishing country France
    Document type Editorial
    ZDB-ID 632733-3
    ISSN 1958-5381 ; 0767-0974
    ISSN (online) 1958-5381
    ISSN 0767-0974
    DOI 10.1051/medsci/2020268
    Database MEDical Literature Analysis and Retrieval System OnLINE

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